Article
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
American journal of medical genetics. Part A - 1 Nov 2011
Vissers Lisenka E L M, Fano Virginia, Martinelli Diego, Campos-Xavier Belinda, Barbuti Domenico, Cho Tae-Joon, Dursun Ahmet, Kim Ok Hwa, Lee Sun Hee, Timpani Giuseppina, Nishimura Gen, Unger Sheila, Sass Jörn Oliver, Veltman Joris A, Brunner Han G, Bonafé Luisa, Dionisi-Vici Carlo, Superti-Furga Andrea
Abstract excerpt
We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients showed mutations in IDH1 predicting p.R132H and p.R132S...
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